Síndrome de fiebre periódica, estomatitis aftosa, faringitis y adenitis / Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome

Introducción: El síndrome de fiebre periódica, estomatitis aftosa, faringitis y adenitis es un cuadro relativamente frecuente de curso autolimitado y buen pronóstico. Es la más común de las enfermedades autoinflamatorias que presentan fiebre recurrente y su etiología y fisiopatogenia permanecen inciertas. Objetivo: Describir el caso clínico de un niño que consultó por fiebre recurrente y faringitis y se arribó al diagnóstico de síndrome de fiebre periódica, estomatitis aftosa, faringitis y adenitis. Presentación del caso: Se trata de un paciente de 5 años que consultó por un episodio febril acompañado de faringitis y adenitis, con antecedente de múltiples episodios previos. Conclusiones: El síndrome fiebre periódica, estomatitis aftosa, faringitis y adenitis, es una entidad de curso benigno y autolimitado que constituye la causa más común de fiebre recurrente con un gran impacto en la vida de los pacientes. La fisiopatogenia permanece incierta. Es destacable la sospecha clínica para arribar al diagnóstico ya que no existen en la actualidad exámenes complementarios específicos(AU)

Introduction: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome is a relatively common picture of self-limiting course and good prognosis. It is the most common of self-inflammatory diseases with recurrent fever and its etiology and physiopathology remain uncertain. Objective: Describe the clinical case of a boy who was checked due recurrent fever and pharyngitis and being diagnosed with Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. Case presentation: This is a 5-year-old patient who was consulted due to a febrile episode accompanied by pharyngitis and adenitis, with a history of multiple previous episodes. Conclusions: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome is a benign, self-limiting course entity that is the most common cause of recurrent fever with a large impact on patients' lives. Its physiopathology remains uncertain. Clinical suspicion for diagnosis is noteworthy as there are currently no specific complementary test for it(AU)

Clinical characteristics of autoinflammatory diseases: a retrospective analysis in a single centre over a 5-year period / 中国实用内科杂志

OBJECTIVE: This study is aimed to evaluate the features in patients with autoinflammatory diseases and to assess the applicability of the international clinical diagnostic criteria for autoinflammatory diseases in these patients. METHODS: We retrospectively reviewed clinical data patients with autoinflammatory diseases in Peking University First Hospital within 5 year.RESULTS: Totally 50 patients were included. Eighteen patients experienced their first attack before 18 years of age, and 32 patients were with adult onset. The median age at onset was 25.5 years(range 1-74); 35(70%) cases experienced recurrent episodes of fever;15(30%) cases had continuous fever. Inflammatory markers were elevated in most patients during fever attack, and reduced in period with no symptoms. All of patients had one or more sequence variants(SVs). MEFV gene mutations were the most common and all SVs were heterozygous.The most frequent genotype was E148 Q(23 patients 50%).Only 5 MEFV SVs cases(10.8%)were up to the familial Mediterranean fever(FMF) Tel Hashomer clinical criteria. Totlly 7 patients were diagnosed with single-gene hereditary autoinflammatory disease. CONCLUSION: Most patients in the study didn't show typical clinical features or typical gene mutations. The international diagnostic criteria of autoinflammatory diseases is not applicable to the patients in this study.

Familial Mediterranean Fever With Complete Symptomatic Remission During Pregnancy

Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among populations surrounding the Mediterranean Sea. FMF is the most prevalent autoinflammatory disease; is characterized by recurrent, self-limited episodes of fever with serositis; and is caused by Mediterranean fever gene (MEFV) mutations on chromosome 16. We describe a case of adult-onset FMF with complete symptomatic remission during pregnancy, without the use of colchicine. A 25-year-old woman had presented with periodic fever, abdominal pain, and vomiting since she was 21. Her abdominal computed tomography scan showed intestinal nonrotation. She underwent exploratory laparotomy and appendectomy for her symptoms 1 year prior. She had a symptom-free pregnancy period, but abdominal pain and fever recurred after delivery. Mutation analysis of the MEFV gene revealed two point mutations (p.Leu110Pro and p.Glu148Gln). We report an adult female patient with FMF in Korea with complete symptomatic remission during pregnancy.

<b>A Case of Recurrent Fever Successfully Treated with Yokukansan</b> / 日本東洋医学雑誌

The patient was a 14 year-old female. She had been hospitalized repeatedly since infancy for suspected tonsillitis. During this time, she experienced high fever for about a week once a month. In her school years, she often had a recurrent fever with cervical adenitis, with only a mild inflammatory reaction. We diagnosed her symptom as one of a periodic fever syndrome, triggered by the frequent administered antipyretic drugs for fevers of unknown origin (FUO). We also suspected that there was liver tension, based on her abdominal and back examination, and we prescribed yokukansan. After a 3-month course of yokukansan, she no longer experienced these fevers. Most case reports of FUO describe the use of bupleurum root drugs and tonic formulas as treatment. Although yokukansan has traditionally been used for FUO in older texts, to our knowledge, there are no reports on such use clinically. In the present patient's case, the yokukansan may have reduced or eliminated some type of trigger for the fevers, or it may have affected the regulation of cytokines.

Familial Mediterranean Fever: The First Adult Case in Korea

Familial Mediterranean fever (FMF) is known to be a genetic disorder that prevalent among populations surrounding the Mediterranean Sea. Since Mediterranean fever gene (MEFV) was discovered at 1997, some cases have been reported in countries not related or close to this area like Japan. In addition it has been generally accepted that the clinical onset of FMF begins before 20 yr of age in most patients. Onset of the disease at an older age may occur but is rare. Adult-onset FMF may be a form of disease with distinct clinical, demographic and molecular characteristics. We describe a case of adult-onset FMF confirmed by DNA analysis of the MEFV gene in a Korean patient. A 32-yr-old man, who has no family history of FMF, presented with periodic fever, abdominal pain and vomiting. Though several various tests were thoroughly performed to evaluate the cause of his symptoms, there was no evidence of infectious, autoimmune or neoplastic diseases. Several gene analysis of periodic fever syndrome was finally performed and two point mutations (p.Leu110Pro, p.Glu148Gln) were identified. We confirmed the first adult case of FMF through detection of MEFV gene mutations in Korea and describe his clinical characteristics.

Familial Mediterranean Fever: The First Adult Case in Korea

Familial Mediterranean fever (FMF) is known to be a genetic disorder that prevalent among populations surrounding the Mediterranean Sea. Since Mediterranean fever gene (MEFV) was discovered at 1997, some cases have been reported in countries not related or close to this area like Japan. In addition it has been generally accepted that the clinical onset of FMF begins before 20 yr of age in most patients. Onset of the disease at an older age may occur but is rare. Adult-onset FMF may be a form of disease with distinct clinical, demographic and molecular characteristics. We describe a case of adult-onset FMF confirmed by DNA analysis of the MEFV gene in a Korean patient. A 32-yr-old man, who has no family history of FMF, presented with periodic fever, abdominal pain and vomiting. Though several various tests were thoroughly performed to evaluate the cause of his symptoms, there was no evidence of infectious, autoimmune or neoplastic diseases. Several gene analysis of periodic fever syndrome was finally performed and two point mutations (p.Leu110Pro, p.Glu148Gln) were identified. We confirmed the first adult case of FMF through detection of MEFV gene mutations in Korea and describe his clinical characteristics.